Variant report

Variant	nsv975173
Chromosome Location	chr11:48986181-49016905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:48990838-48991105	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:48994051-48994082	HepG2	liver:	n/a	n/a
3	CTCF	chr11:49015556-49015587	GM10248	blood:	n/a	n/a
4	CTCF	chr11:48995522-48995576	GM20000	blood:	n/a	n/a
5	CTCF	chr11:49007543-49007618	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr11:49005234-49005296	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr11:49004817-49004881	LNCaP	prostate:	n/a	n/a
8	CTCF	chr11:49002359-49002389	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:49001907-49001963	LNCaP	prostate:	n/a	n/a
10	E2F4	chr11:48989171-48989221	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:49013488-49013679	MCF10A-Er-Src	breast:	n/a	chr11:49013634-49013643 chr11:49013634-49013644 chr11:49013635-49013644 chr11:49013638-49013646 chr11:49013635-49013642
12	FOS	chr11:49013531-49013795	MCF10A-Er-Src	breast:	n/a	chr11:49013634-49013643 chr11:49013634-49013644 chr11:49013635-49013644 chr11:49013638-49013646 chr11:49013635-49013642
13	JUND	chr11:48994064-48994085	HepG2	liver:	n/a	n/a
14	MAFF	chr11:49002054-49002146	K562	blood:	n/a	chr11:49002080-49002098 chr11:49002086-49002100
15	MAFF	chr11:49001958-49002261	HepG2	liver:	n/a	chr11:49002080-49002098 chr11:49002086-49002100
16	MAFK	chr11:49001912-49002274	HepG2	liver:	n/a	chr11:49002089-49002099 chr11:49002082-49002097 chr11:49002085-49002101 chr11:49002086-49002100 chr11:49002087-49002096 chr11:49002082-49002098 chr11:49002083-49002103
17	MAFK	chr11:49001926-49002239	HepG2	liver:	n/a	chr11:49002089-49002099 chr11:49002082-49002097 chr11:49002085-49002101 chr11:49002086-49002100 chr11:49002087-49002096 chr11:49002082-49002098 chr11:49002083-49002103
18	MAFK	chr11:49001927-49002253	IMR90	lung:	n/a	chr11:49002089-49002099 chr11:49002082-49002097 chr11:49002085-49002101 chr11:49002086-49002100 chr11:49002087-49002096 chr11:49002082-49002098 chr11:49002083-49002103
19	PBX3	chr11:48990768-48991121	GM12878	blood:	n/a	n/a
20	PBX3	chr11:48991157-48991690	GM12878	blood:	n/a	n/a
21	PBX3	chr11:48991807-48991953	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:48992413-48992468	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:48996933-48997051	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:48990347-48990359	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:49002859-49002876	Gliobla	brain:	n/a	n/a
26	POLR2A	chr11:49002846-49002927	ProgFib	skin:	n/a	n/a
27	POLR2A	chr11:48998277-48998308	MCF10A-Er-Src	breast:	n/a	n/a
28	REST	chr11:48990329-48990458	PFSK-1	brain:	n/a	n/a
29	REST	chr11:48990251-48990509	PANC-1	pancreas:	n/a	n/a
30	REST	chr11:48990243-48990579	PFSK-1	brain:	n/a	n/a
31	REST	chr11:48990293-48990456	GM12878	blood:	n/a	n/a
32	REST	chr11:48990315-48990472	HepG2	liver:	n/a	n/a
33	REST	chr11:48990252-48990538	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr11:48990286-48990476	GM12878	blood:	n/a	n/a
35	REST	chr11:48990281-48990485	HepG2	liver:	n/a	n/a
36	REST	chr11:48990270-48990486	PANC-1	pancreas:	n/a	n/a
37	REST	chr11:48990312-48990484	SK-N-SH	brain:	n/a	n/a
38	REST	chr11:48990213-48990586	PFSK-1	brain:	n/a	n/a
39	REST	chr11:48990258-48990563	SK-N-SH	brain:	n/a	n/a
40	REST	chr11:48990195-48990523	ECC-1	luminal epithelium:	n/a	n/a
41	REST	chr11:48990312-48990486	SK-N-SH	brain:	n/a	n/a
42	REST	chr11:48990261-48990565	SK-N-SH	brain:	n/a	n/a
43	REST	chr11:48990244-48990493	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr11:48990287-48990567	PFSK-1	brain:	n/a	n/a
45	REST	chr11:48990233-48990624	ECC-1	luminal epithelium:	n/a	n/a
46	SRF	chr11:48989725-48989869	GM12878	blood:	n/a	n/a
47	STAT3	chr11:49013568-49013874	MCF10A-Er-Src	breast:	n/a	chr11:49013634-49013643
48	STAT3	chr11:49013617-49013852	MCF10A-Er-Src	breast:	n/a	chr11:49013634-49013643
49	TCF3	chr11:48991165-48991511	GM12878	blood:	n/a	n/a
50	USF1	chr11:48988612-48988799	HepG2	liver:	n/a	chr11:48988697-48988708

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48989769-48989819	IMR90	lung:	fetal
2	chr11:48989769-48989819	IMR90	lung:	fetal
3	chr11:48987265-48987315	SK-N-SH_RA	brain:	n/a
4	chr11:48990211-48990261	T-47D	breast:	n/a
5	chr11:48987265-48987315	HRE	kidney:	n/a
6	chr11:48994113-48994163	T-47D	breast:	n/a
7	chr11:48989769-48989819	HepG2	liver:	n/a
8	chr11:49003527-49003577	HMEC	breast:	n/a
9	chr11:48990330-48990380	HepG2	liver:	n/a
10	chr11:48994113-48994163	HRCEpiC	kidney:	n/a
11	chr11:48990211-48990261	Hepatocyte	liver:	n/a
12	chr11:49003361-49003411	AG09309	skin:	n/a
13	chr11:48990330-48990380	T-47D	breast:	n/a
14	chr11:48989769-48989819	HRE	kidney:	n/a
15	chr11:48990484-48990534	HAEpiC	amniotic membrane:	n/a
16	chr11:48991619-48991669	HL-60	blood:	n/a
17	chr11:48989769-48989819	LNCaP	prostate:	n/a
18	chr11:48990484-48990534	GM19239	blood:	n/a
19	chr11:49003361-49003411	HMEC	breast:	n/a
20	chr11:48990484-48990534	HEEpiC	esophagus:	n/a
21	chr11:48990484-48990534	GM06990	blood:	n/a
22	chr11:48987265-48987315	HepG2	liver:	n/a
23	chr11:48990330-48990380	H1-hESC	embryonic stem cell:	embryo
24	chr11:48990484-48990534	HCM	heart:	n/a
25	chr11:48989769-48989819	CMK	blood:	n/a
26	chr11:49016314-49016364	NHDF-neo	bronchial:	n/a
27	chr11:48987265-48987315	AG04449	skin:	fetal
28	chr11:48990211-48990261	LNCaP	prostate:	n/a
29	chr11:48990330-48990380	AG09309	skin:	n/a
30	chr11:48990484-48990534	A549	lung:	n/a
31	chr11:49003527-49003577	HCT-116	colon:	n/a
32	chr11:49003527-49003577	HUVEC	blood vessel:	n/a
33	chr11:48990211-48990261	PrEC	prostate:	n/a
34	chr11:48991619-48991669	GM12891	blood:	n/a
35	chr11:48991619-48991669	HUVEC	blood vessel:	n/a
36	chr11:49003361-49003411	NH-A	brain:	n/a
37	chr11:48989769-48989819	HNPCEpiC	eye:	n/a
38	chr11:48987265-48987315	PFSK-1	brain:	n/a
39	chr11:49003361-49003411	Hela-S3	cervix:	n/a
40	chr11:48991619-48991669	HCM	heart:	n/a
41	chr11:48991619-48991669	A549	lung:	n/a
42	chr11:49003527-49003577	SK-N-MC	brain:	n/a
43	chr11:48990211-48990261	NB4	blood:	n/a
44	chr11:48994113-48994163	RPTEC	kidney:	n/a
45	chr11:48990211-48990261	HIPEpiC	eye:	n/a
46	chr11:49003527-49003577	SK-N-SH_RA	brain:	n/a
47	chr11:48987265-48987315	Jurkat	blood:	n/a
48	chr11:48994113-48994163	AG09309	skin:	n/a
49	chr11:48989769-48989819	Jurkat	blood:	n/a
50	chr11:48989769-48989819	Hepatocyte	liver:	n/a

Variant related genes	Relation type
TRIM53CP	TF binding region
TRIM51GP	TF binding region
TRIM53CP	CpG island
TRIM51GP	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576649544	chr11:49003361-49003362	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs11608048	chr11:49003362-49003363	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192491541	chr11:49003377-49003378	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs572571059	chr11:49003385-49003386	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs533846941	chr11:49003397-49003398	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs541576755	chr11:49003407-49003408	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs551531892	chr11:49003527-49003528	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs571497116	chr11:49003540-49003541	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs376497992	chr11:49003548-49003549	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs572571881	chr11:49003549-49003550	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs189387935	chr11:49003555-49003556	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs557250890	chr11:49003565-49003566	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs59228939	chr11:49004830-49004831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs189672785	chr11:49005280-49005281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562372723	chr11:49007546-49007547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs527323120	chr11:49007593-49007594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138021705	chr11:49007614-49007615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs575512435	chr11:49013517-49013518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs555667907	chr11:49013523-49013524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553953534	chr11:49013532-49013533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540665894	chr11:49013559-49013560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs181630250	chr11:49013571-49013572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201728799	chr11:49013623-49013624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs79372372	chr11:49013637-49013638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200997676	chr11:49013655-49013656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544539006	chr11:49013674-49013675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186765795	chr11:49013682-49013683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs1847643	chr11:49013685-49013686	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190779541	chr11:49013700-49013701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147998527	chr11:49013701-49013702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs542825003	chr11:49013714-49013715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs183284863	chr11:49013740-49013741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs1847644	chr11:49013741-49013742	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141687688	chr11:49013754-49013755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs574910608	chr11:49013763-49013764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570844776	chr11:49013792-49013793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533137117	chr11:49013814-49013815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550280915	chr11:49013827-49013828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs576822082	chr11:49013835-49013836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570029177	chr11:49013847-49013848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs113679899	chr11:49013858-49013859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs377007180	chr11:49013859-49013860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs538876207	chr11:49015559-49015560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs7934118	chr11:49015563-49015564	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575349129	chr11:49015571-49015572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs577243378	chr11:49016314-49016315	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs185142651	chr11:49016315-49016316	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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